Genetic testing for haemochromatosis: A survey of UK genetic centresadenomatous hyperplasiahepatitis B virushepatitis C virushepatocellular carcinomadoi:10.1016/S0168-8278(00)81197-6C. PatchW. RosenbergElsevier B.V.Journal of Hepatology
The UK Haemochromatosis Consortium (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut, 41, 841±844.THE UK HAEMOCHROMATOSIS CONSORTIUM. A simple gen- etic test identifies 90% of UK patients with haemochroma- tosis. Gut 1997; 41: 841-4....
over a 13-year follow-up, making it the largest-scale study to look at disease outcomes linked to hemochromatosis. The paper is entitled "HFE genotypes, haemochromatosis diagnosis and clinical outcomes to age 80: aprospective cohort studyin UK Biobank," and ispublishedinBMJ Open. ...
Haemochromatosis and HLA-H. Nat Genet 1996;14:249 –251. 37. Jouanolle A, Gandon G, Je´ze´quel P. Hemochromatosis and HLA-H (Letter). Nat Genet 1996;14:251–252. 38. Fackelmann K. Rusty origins: researchers identify the gene for iron-overload disease. Sci News. January 18,...
69 Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D: High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population–implications for haemochromatosis. Tissue Antigens 1998; 52: 484–488. 70 Nielsen P, Carpinteiro S, Fischer R, Cabeda JM,...
Summary points Hereditary haemochromatosis is an autosomal recessive genetic disease in which increased intestinal absorption of iron causes accumulation i... MAV Bokhoven,CTBMV Deursen,DW Swinkels - 《Bmj British Medical Journal》 被引量: 282发表: 2011年 ...
A research project on patients' experiences of testing for predisposition to haemochromatosis (iron overload) in a clinic-setting found that a third of participants did not know how many mutations they had inherited [22], and healthy individuals tested for haemochromatosis were observed to be ...
Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation To evaluate DNA testing for detecting hereditary haemochromatosis (HHC) in subgroups of patients suspected of having the disorder and in family members of ... J...
The putative relationship between genetic haemochromatosis and PiZ alpha 1 antitrypsin deficiency was studied using a monoclonal antibody against the PiZ variant in 67 consecutive patients with genetic haemochromatosis seen at Karolinska... AN Elzouki,R Hultcrantz,P Stål,... - Gut 被引量: 29...
Presents a correction to the article "The Geography of HFE Mutations: Molecular Diagnosis of Haemochromatosis and the Globalization of Genetic Testing," by Manuel Salto-Tellez and Evelyn Siew-Chuan Koay in this issue of "European Journal of Human Genetics."...